Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Leu858Arg (p.L858R)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- adenocarcinoma
- Source Database
- DisGeNET
- Description
- Immunohistochemical expression of mutation-specific antibodies against EGFR exon 19 deletion E746-A750 ((c.2235_2249del15 or c.2236_2250del15, p. Glu746_Ala750del) and exon 21 L858R point mutation (c.2573T>G, p.Leu858Arg) were assessed in a cohort of 204 resected early stage node negative lung adenocarcinomas, and protein expression was compared with DNA analysis results from mass spectrometry analysis.
- Pubmed
- 23757037
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2013
Drugs